Gene: ACADVL

Alternate names for this Gene: ACAD6|LCACD|VLCAD

Gene Summary: The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: acyl-CoA dehydrogenase very long chain

Type of Gene: protein-coding

Gene: MIR324

Alternate names for this Gene: MIRN324|hsa-mir-324|mir-324

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: microRNA 324

Type of Gene: ncRNA

rs1057516370 in ACADVL;MIR324 gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 25338548 2015 Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

PMID 9973285 1999 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 10077518 1999 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

PMID 24801231 2014 Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

PMID 11590124 2001 Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

PMID 15210884 2004 A new diagnostic test for VLCAD deficiency using immunohistochemistry.

PMID 26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

PMID 20480395 2010 High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

PMID 23774949 2014 Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

PMID 16464760 2005 Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.

PMID 10738914 2000 Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

PMID 9709714 1998 Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

PMID 8554073 1996 Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

PMID 9546340 1998 Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.

PMID 16443431 2006 Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.

PMID 24305961 2014 Muscle MRI in patients with long-chain fatty acid oxidation disorders.

PMID 27246109 2016 VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

PMID 8845838 1996 Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

PMID 25834949 2015 Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

PMID 17999356 2007 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

PMID 17514507 2007 Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.

PMID 23798014 2013 Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

PMID 21429517 2011 Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.

PMID 19327992 2009 Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

PMID 25214167 2014 MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

PMID 14517516 2003 MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 9839948 1998 Relationship between structure and substrate-chain-length specificity of mitochondrial very-long-chain acyl-coenzyme A dehydrogenase.

PMID 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PMID 26453363 2016 The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

PMID 23418865 2013 Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.

PMID 23867825 2013 The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.

PMID 27209629 2016 Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

PMID 17206456 2007 A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.